Whole Genome Sequencing News and Research

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NovaSeq, the new sequencer by Illumina, said to transform the field of genomics

Illumina, Inc., the global leader in next-generation sequencing technology, today introduced the NovaSeqTM Series, a new and scalable sequencing architecture expected one day to enable a $100 genome. Unveiled at the J.P. Morgan Healthcare Conference, this platform redefines high throughput sequencing with unrivaled throughput, ease of use, low per sample costs, and unmatched flexibility.

From Illumina, Inc. 12 Jan 2017

EUCAST experts say that genetic testing methods cannot be used to determine antimicrobial susceptibility

Experts at the European Committee on Antimicrobial Susceptibility Testing, who define the optimal drug concentrations to inhibit the growth of pathogens, have found that genetic methods cannot yet be used to test for susceptibility in a number of important bacterial species.

9 Dec 2016

Wellcome Trust Sanger Institute open new biodata innovation centre and sequencing facility

The UK Prime Minister Rt Hon Theresa May today joined key stakeholders from across the life sciences sector to open the Wellcome Trust Sanger Institute’s new Bridget Ogilvie Building and the Biodata Innovation Centre at the Wellcome Genome Campus in Cambridge.

22 Nov 2016

ESCMID experts raise awareness for optimal use of antibiotics to combat AMR

Experts at the European Society of Clinical Microbiology and Infectious Disease (ESCMID) are joining colleagues across the globe this week to promote prudent use of antibiotics.

21 Nov 2016

Researchers propose zebrafish as model to predict effects of EDCs

Water is vital for our survival. However, water quality is always a concern for public health authorities as it may contain diverse environmental pollutants, including endocrine disrupting chemicals (EDCs).

18 Nov 2016

Scientists use latest sequencing technology to review genetic makeup of ataxias syndrome

According to a recent study published in JAMA Neurology, Northwestern Medicine scientists have examined more than a century of data of the genetic makeup of ataxias, a neurodegenerative disorder, to better understand the different forms of this devastating disease and how it affects patients.

8 Nov 2016

Researchers uncover possible targeted therapy for new, high-risk subtype of ALL

An international research team led by St. Jude Children's Research Hospital investigators has uncovered details of a new, high-risk subtype of acute lymphoblastic leukemia (ALL) as well as a possible targeted therapy.

8 Nov 2016

Tgen-NAU researchers produce anthrax genome sequence from victims of 1979 outbreak

A new study by the Translational Genomics Research Institute and Northern Arizona University used deep DNA sequencing methods to generate the anthrax genome sequence from the victims of the 1979 anthrax outbreak in Sverdlovsk, Russia, when it was part of the USSR.

9 Sep 2016

Scientists discover novel African types of Salmonella linked to blood poisoning and death

The first global-scale genetic study of Salmonella Enteritidis bacteria, which is a major cause of blood poisoning and death in Africa and food poisoning in the Western World, has discovered that there are in fact three separate types.

22 Aug 2016

Researchers use machine-learning approach to predict autism risk genes

Princeton University and Simons Foundation researchers have developed a machine-learning approach that for the first time analyzes the entire human genome to predict which genes may cause autism spectrum disorder, raising the number of genes that could be linked to the disorder from 65 to 2,500.

1 Aug 2016

Researchers discover three new risk genes for ALS

Published today in Nature Genetics, the study reveals three new risk genes for ALS and one of these - C21orf2 - increases an individual's risk of developing the dis-ease by 65 per cent.

26 Jul 2016

Whole-exome sequencing can help characterize genetic alterations for commonly used bladder cancer cell lines

Much of basic cancer research is based on studies with cultured cancer cells. However, the usefulness of these studies greatly depends on how accurately these cancer cells grown in a dish represent human tumors.

9 Jun 2016

Birmingham Women's Hospital leads the way in genomic diagnosis

Birmingham Women's Hospital (BWH) has adopted a radical new technology to make it easier to identify rare diseases by their genetic causes, leading to a faster and more accurate diagnosis for the patient. The technology being used to do this is called Sapientia™ and it is facilitating the reclassification of disease.

16 May 2016

Scientists prove effectiveness of gene editing system in eliminating HIV from DNA of CD4+ T-cells

In 2014, a team of researchers in the Lewis Katz School of Medicine at Temple University became the first to successfully eliminate the HIV-1 virus from cultured human cells.

12 May 2016

TGen scientists trace likely origins, dispersal of fungus that causes Valley Fever

Using the latest in genomic analysis technologies, scientists at the Translational Genomics Research Institute have tracked the likely origins and dispersal of the fungus that causes Valley Fever, according to a study published today in the journal mBio, the premiere journal for reporting high impact microbiological research.

27 Apr 2016

Lund researchers discover new biomarker that can predict type 2 diabetes risk

Researchers at Lund University in Sweden have found a new type of biomarker that can predict the risk of type 2 diabetes, by detecting epigenetic changes in specific genes through a simple blood test. The results are published today in Nature Communications.

2 Apr 2016

Putative male-determining gene discovery could help develop strategies to combat malaria

A group of scientists, including one from the University of California, Riverside, have discovered a long-hypothesized male determining gene in the mosquito species that carries malaria, laying the groundwork for the development of strategies that could help control the disease.

30 Mar 2016

UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

UT Southwestern Medical Center researchers have discovered a mutation that causes a rare systemic disorder known as X-linked reticulate pigmentary disorder (XLPDR) and, significantly, the unexpected cellular mechanism by which the mutation causes the disease.

29 Mar 2016

New worldwide collaboration aims to speed up effective diagnosis of TB

As World TB day (24 March) marks global efforts to eliminate tuberculosis as a public health problem by 2035, Oxford University researchers, in partnership with Public Health England (PHE), will lead a new worldwide collaboration called CRyPTIC to speed up diagnosis of the disease.

23 Mar 2016

Addition of just two DNA bases to LdAQP1 gene helps Black Fever parasite to overcome antimonial drugs

Wellcome Trust Sanger Institute scientists show how the parasite responsible for the neglected tropical disease Black Fever (visceral leishmaniasis) can become resistant to drug treatment. Studying the whole genomes of more than 200 samples of Leishmania donovani revealed that the addition of just two bases of DNA to a gene known as LdAQP1 stops the parasite from absorbing antimonial drugs.